| Variant ID | 1566 |
|---|---|
| Entrez Gene ID | 7248 |
| Gene | TSC1 (GeneCards) |
| Location | hg19 9:135804196-135804196
hg38 9:132928809-132928809 |
| Disease | Focal Cortical Dysplasias (view all the variants in this disease) |
| Method | HiSeq 2500 MiSeq |
| Mutation(HGVS format) | NC_000009.11:g.135804196 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 22 |
| Amino acid changes in protein | R > W |
| Position in cDNA | 64 |
| Changes in cDNA | C > T |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 4997027 |
| Variant occurences in COSMIC | 1(upper_aerodigestive_tract) |
| EIGEN score | 0.1152 |
| CADD Raw score (version 1.3) | 5.380371 (Deleterious) |
| FATHMM raw prediction score | 0.93646 (Tolerated) |
| SIFT score | 0.023 (Deleterious) |
| LRT score | 0.002 (Tolerated) |
| MutationTaster score | 0.916 (Tolerated) |
| MutatioinAssessor score | 1.79 (Tolerated) |
| PROVEAN score | -0.98 (Tolerated) |
| MetaSVM score | 0.15 (Deleterious) |
| MetaLR score | 0.604 (Deleterious) |
| MCAP score | 0.29 (Deleterious) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.21 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.629 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.998 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 6.915 |
| Deleterious probability by iFish2 | 0.5501 (Neutral) |
| Deleterious probability by DeFine | 0.9127 (Deleterious) |
| Entrez Gene ID | 7248 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TSC1 (GeneCards) |
| Number of variants in TSC1 in this database | 6 (view all the variants) |
| Full name | TSC complex subunit 1 |
| Band | 9q34.13 |
| Other IDs | Vega: OTTHUMG00000020844 OMIM: 605284 HGNC: HGNC:12362 Ensembl: ENSG00000165699 |
| Other names | LAM, TSC |
| Summary | This gene is a tumor suppressor gene that encodes the growth inhibitory protein hamartin. The encoded protein interacts with and stabilizes the GTPase activating protein tuberin. This hamartin-tuberin complex negatively regulates mammalian target of rapamycin complex 1 (mTORC1) signalling which is a major regulator of anabolic cell growth. This protein also functions as a co-chaperone for Hsp90 that inhibits its ATPase activity. This protein functions as a facilitator of Hsp90-mediated folding of kinase and non-kinase clients, including Tsc2 and thereby preventing their ubiquitination and proteasomal degradation. Mutations in this gene have been associated with tuberous sclerosis. [provided by RefSeq, Apr 2018] |
| Individual ID | 28215400.05 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28215400 |
| Whose mosaic mutation | Female Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Focal Cortical Dysplasias (view all the variants in this disease) |
| OMIM ID | 607341 |
| Pubmed ID | 28215400 |
|---|---|
| Title | Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia. |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.03 |
| Disease | Focal Cortical Dysplasias |
| Number of cases | Male cases: 1; Female cases: 4; |